|
1
|
(HPO:0000121)
|
Nephrocalcinosis |
rare [HPO:skoehler]
|
|
|
|
57 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000510)
|
Rod-cone dystrophy |
rare [HPO:skoehler]
|
|
|
|
266 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
rare [HPO:skoehler]
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001510)
|
Growth delay |
rare [HPO:skoehler]
|
|
|
|
295 / 7739
|
|
9
|
(HPO:0001638)
|
Cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
192 / 7739
|
|
10
|
(HPO:0001924)
|
Sideroblastic anemia |
|
|
|
|
12 / 7739
|
|
11
|
(HPO:0002059)
|
Cerebral atrophy |
rare [HPO:skoehler]
|
|
|
|
171 / 7739
|
|
12
|
(HPO:0002299)
|
Brittle hair |
rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
|
13
|
(HPO:0003128)
|
Lactic acidosis |
rare [HPO:skoehler]
|
|
|
|
116 / 7739
|
|
14
|
(HPO:0003355)
|
Aminoaciduria |
rare [HPO:skoehler]
|
|
|
|
65 / 7739
|
|
15
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
16
|
(HPO:0004840)
|
Hypochromic microcytic anemia |
|
|
|
|
15 / 7739
|